A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum
Abstract Background SALL4, a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development. SALL4 mutations cause extremely variable conditions including Duane-radial ray (DRR),...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
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BMC
2023-02-01
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| Schriftenreihe: | BMC Medical Genomics |
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| Online-Zugang: | https://doi.org/10.1186/s12920-023-01467-1 |
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